Product Details

SNP ID

rs143579230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23491871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAGGACAAGTATGTCTTCCTGGT[C/G]GTCAAGACACTGCAAGCCCAGCTTC

Phenotype

MIM: 608683

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CST8 PubMed Links

Gene Details

Gene

CST8

Gene Name

cystatin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281730.1	589	Silent Mutation	GTC,GTG	V68V	NP_001268659.1
NM_005492.3	589	Silent Mutation	GTC,GTG	V68V	NP_005483.1

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